Natural History and Therapeutic Response in Ophthalmic Plasminogen Deficiency: Two Cases and Call for Registry-Based Data.
Sayeed Khan, Ashtyn Vogt, Osman Khan et al.
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Case in brief
The report describes two patients with type 1 plasminogen deficiency and ligneous conjunctivitis. A 65-year-old woman with untreated disease had recurrent conjunctivitis, ultimately requiring enucleation, and developed multisystem morbidity. In contrast, a 4-year-old girl with autosomal dominant disease achieved sustained remission after systemic plasminogen replacement therapy (Ryplazim). Together, the cases illustrate differing clinical courses and responses to treatment; the abstract does not provide further diagnostic test findings or details of the multisystem morbidity.
What made this case unusual
The contrasting outcomes are notable: recurrent ocular disease progressed to enucleation and multisystem morbidity in the untreated adult, whereas the child achieved sustained remission with systemic plasminogen replacement.
Diagnostic / clinical pearl
Ligneous conjunctivitis may precede recognition of plasminogen deficiency, so ophthalmic presentation can be an important opportunity for early diagnosis.
Why it matters
The report notes that long-term outcomes and treatment durability remain poorly defined and calls for registry-based collaboration to characterize disease progression, therapeutic response, and quality-of-life impact.